Results 51 to 60 of about 19,643 (207)
Frontiers in Endocrinology, 2019 Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with intellectual disability, hyperactivity, and autism. FXS is due to the silencing of the X-linked FMR1 gene.
Antoine Leboucher +5 more
doaj +1 more source
Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review
Frontiers in Psychiatry, 2021 FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas +9 more
doaj +1 more source
Advanced Science, EarlyView.Protein complexes like KIBRA‐PKMζ are crucial for maintaining memories, forming month‐long protein traces in memory‐tagged neurons, but conventional RNA‐seq analysis fails to detect their transcript changes, leaving memory molecules undetected in the shadows of abundantly‐expressed genes.
Jiyeon Han +10 more
wiley +1 more source
Aging in Individuals With the FMR1 Mutation [PDF]
American Journal on Mental Retardation, 2004 Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia ...
S, Jacquemont +12 more
openaire +2 more sources
American Journal of Medical Genetics. Part A, 2019 Instability of the FMR1 repeat, commonly observed in transmissions of premutation alleles (55–200 repeats), is influenced by the size of the repeat, its internal structure and the sex of the transmitting parent.
S. Nolin +10 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler +5 more
wiley +1 more source
Journal of Neuroscience, 2019 Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading monogenetic cause of autism. One symptom of FXS and autism is sensory hypersensitivity (also called sensory over-responsivity). Perhaps related to this,
D. Gonzalez +8 more
semanticscholar +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source
Utilizing FMR1 gene mutations as predictors of treatment success in human in vitro fertilization.
PLoS ONE, 2014 ContextMutations of the fragile X mental retardation 1 (FMR1) gene are associated with distinct ovarian aging patterns.ObjectiveTo confirm in human in vitro fertilization (IVF) that FMR1 affects outcomes, and to determine whether this reflects ...
Vitaly A Kushnir +9 more
doaj +1 more source
DDX3X and specific initiation factors modulate FMR1 repeat‐associated non‐AUG‐initiated translation
EMBO Reports, 2019 A CGG trinucleotide repeat expansion in the 5′ UTR of FMR1 causes the neurodegenerative disorder Fragile X‐associated tremor/ataxia syndrome (FXTAS). This repeat supports a non‐canonical mode of protein synthesis known as repeat‐associated, non‐AUG (RAN)
Alexander E. Linsalata +11 more
semanticscholar +1 more source